Q59L (p.Gln59Leu) variant of BEST1 (Bestrophin-1)
Q59L (p.Gln59Leu) in BEST1 (Bestrophin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
Q59L (p.Gln59Leu) variant details
- p.Gln59Leu
- gnomAD rs1941144580
- Missense
- Variant Prioritization Score for Impact Estimate 0.659
- REVEL 0.74
- CADD 18.80
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available